ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.637G>A (p.Val213Met) (rs2308317)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075789 SCV000106799 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
GeneDx RCV000121357 SCV000170290 benign not specified 2014-01-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000128927 SCV000172797 benign Hereditary cancer-predisposing syndrome 2014-10-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121357 SCV000232494 benign not specified 2014-12-29 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000075789 SCV000257653 benign Lynch syndrome 2015-06-08 criteria provided, single submitter clinical testing
Invitae RCV000034547 SCV000262382 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000075789 SCV000443329 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000121357 SCV000539631 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 3.0% African chromosomes
Genetic Services Laboratory, University of Chicago RCV000121357 SCV000595800 likely benign not specified 2016-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034547 SCV000604230 benign not provided 2018-02-13 criteria provided, single submitter clinical testing
Color RCV000128927 SCV000684855 benign Hereditary cancer-predisposing syndrome 2015-02-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121357 SCV000805978 benign not specified 2017-01-10 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034547 SCV000043320 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000121357 SCV000085537 not provided not specified 2013-09-19 no assertion provided reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121357 SCV000257109 benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000128927 SCV000788025 benign Hereditary cancer-predisposing syndrome 2017-11-14 no assertion criteria provided clinical testing

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